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Elizabeth M. McNally

Center for Human Genetics · US
🔎 Find collaborators in Molecular Biology · Cardiology and Cardiovascular Medicine →
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Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, RNA Research and Splicing, and Nuclear Structure and Function.
h-index
85
citations
24,262
works
548
NIH funding
primary concept
Medicine
email

Recent publications

Genes Associated With Hypertrophic Cardiomyopathy
Journal of the American College of Cardiology 2025cited by 48position: middledoi
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum
Nature Genetics 2025cited by 23position: middledoi
Macrophage-derived Spp1 promotes intramuscular fat in dystrophic muscle
JCI Insight 2025cited by 10position: middledoi
Desmoplakin Cardiomyopathy: Role of Inflammation and Potential Role of Disease-Modifying Therapies
Current Cardiology Reports 2025cited by 10position: middledoi
Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation
Genetics in Medicine 2025cited by 3position: middledoi
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine 2024cited by 182position: middledoi
Genetic testing in early-onset atrial fibrillation
European Heart Journal 2024cited by 34position: middledoi
Simultaneous electromechanical monitoring in engineered heart tissues using a mesoscale framework
Science Advances 2024cited by 22position: middledoi
A Genomic Link From Heart Failure to Atrial Fibrillation Risk: FOG2 Modulates a TBX5/GATA4-Dependent Atrial Gene Regulatory Network
Circulation 2024cited by 12position: middledoi
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Genome Medicine 2024cited by 11position: lastdoi
Returning integrated genomic risk and clinical recommendations: The eMERGE study
Genetics in Medicine 2023cited by 113position: middledoi
Myosin-binding protein H-like regulates myosin-binding protein distribution and function in atrial cardiomyocytes
Proceedings of the National Academy of Sciences 2023cited by 17position: lastdoi
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
Nature Communications 2022cited by 142position: middledoi
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders
Heart Rhythm 2022cited by 59position: middledoi
Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression
Circulation 2021cited by 91position: lastdoi
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders
Neurology Genetics 2020cited by 55position: middledoi
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants
Journal of the American Heart Association 2020cited by 41position: lastdoi
Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart
Circulation Heart Failure 2020cited by 29position: lastdoi
Conference report on contractures in musculoskeletal and neurological conditions
Muscle & Nerve 2020cited by 21position: middledoi
Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin-deficient muscles through matrix metalloproteinases
Human Molecular Genetics 2019cited by 98position: middledoi
Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes
JCI Insight 2019cited by 32position: lastdoi
A promoter interaction map for cardiovascular disease genetics
eLife 2018cited by 158position: middledoi
Cardiac Management of the Patient With Duchenne Muscular Dystrophy
PEDIATRICS 2018cited by 121position: middledoi
Association of Cardiomyopathy With <i>MYBPC3</i> D389V and <i>MYBPC3<sup>Δ25bp</sup></i>Intronic Deletion in South Asian Descendants
JAMA Cardiology 2018cited by 43position: middledoi
Dilated Cardiomyopathy
Circulation Research 2017cited by 781position: firstdoi
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis
Human Molecular Genetics 2017cited by 99position: middledoi
Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury
PLoS Genetics 2017cited by 36position: lastdoi
226th ENMC International Workshop:
Neuromuscular Disorders 2017cited by 13position: middledoi
An actin-dependent annexin complex mediates plasma membrane repair in muscle
The Journal of Cell Biology 2016cited by 186position: lastdoi
<i>Pitx2</i> modulates a <i>Tbx5</i> -dependent gene regulatory network to maintain atrial rhythm
Science Translational Medicine 2016cited by 154position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Megan J. Puckelwartz · Northwestern University10 papers (2012–2024)Alexis R. Demonbreun · Northwestern University9 papers (2013–2024)Lisa Dellefave‐Castillo · Northwestern University8 papers (2012–2024)Judy U. Earley · University of Liverpool8 papers (2013–2017)Jeffery D. Molkentin · Cincinnati Children's Hospital Medical Center7 papers (2012–2016)David Y. Barefield · Loyola University Chicago6 papers (2015–2023)Michele Hadhazy · Northwestern University6 papers (2012–2017)Andy H. Vo · University of Michigan5 papers (2014–2019)Kaitlin E. Swanson · Indiana University – Purdue University Indianapolis5 papers (2013–2016)Quan Q. Gao · Tianjin University of Science and Technology5 papers (2014–2016)Jessica R. Golbus · University of Michigan4 papers (2012–2014)Peter Pytel · University of Chicago4 papers (2013–2015)Marcelo A. Nóbrega · University of Chicago4 papers (2012–2021)Lorenzo L. Pesce · Northwestern University4 papers (2014–2024)John Fahrenbach · University of Chicago4 papers (2012–2014)Kayleigh A. Swaggart · Indiana University School of Medicine3 papers (2012–2015) · 3 papers (2015–2019)Sasha Bogdanovich · University of Pennsylvania3 papers (2014–2016)Tess D. Pottinger · Columbia University3 papers (2020–2024)Ermelinda Ceco · Northwestern University3 papers (2012–2014)
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